Incidental Mutation 'R8159:Chpf'
| ID |
633413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chpf
|
| Ensembl Gene |
ENSMUSG00000032997 |
| Gene Name |
chondroitin polymerizing factor |
| Synonyms |
1700028N03Rik, D1Bwg1363e |
| MMRRC Submission |
067585-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8159 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75451213-75455951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75455436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 105
(R105K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037708]
[ENSMUST00000050899]
[ENSMUST00000079205]
[ENSMUST00000079205]
[ENSMUST00000094818]
[ENSMUST00000094818]
[ENSMUST00000113575]
[ENSMUST00000113577]
[ENSMUST00000124042]
[ENSMUST00000138683]
[ENSMUST00000148980]
[ENSMUST00000187411]
|
| AlphaFold |
Q6IQX7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037708
|
| SMART Domains |
Protein: ENSMUSP00000045598
Gene: ENSMUSG00000033007
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
Pfam:ASC
|
45 |
464 |
5.3e-92 |
PFAM |
|
low complexity region
|
507 |
533 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050899
|
| SMART Domains |
Protein: ENSMUSP00000057865
Gene: ENSMUSG00000051703
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4203
|
40 |
236 |
7.2e-51 |
PFAM |
|
low complexity region
|
252 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000079205
AA Change: R105K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997
AA Change: R105K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
Pfam:CHGN
|
262 |
761 |
5e-150 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000079205
AA Change: R105K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997
AA Change: R105K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
Pfam:CHGN
|
262 |
761 |
5e-150 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094818
|
| SMART Domains |
Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CHGN
|
100 |
599 |
3.3e-174 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094818
|
| SMART Domains |
Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CHGN
|
100 |
599 |
3.3e-174 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113575
|
| SMART Domains |
Protein: ENSMUSP00000109205
Gene: ENSMUSG00000051703
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4203
|
39 |
237 |
2.2e-59 |
PFAM |
|
low complexity region
|
252 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113577
|
| SMART Domains |
Protein: ENSMUSP00000109207
Gene: ENSMUSG00000033007
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
Pfam:ASC
|
45 |
346 |
5.5e-94 |
PFAM |
|
Pfam:ASC
|
344 |
446 |
1.4e-42 |
PFAM |
|
low complexity region
|
488 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124042
AA Change: R105K
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122057
Gene: ENSMUSG00000032997
AA Change: R105K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138683
AA Change: S105N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117253
Gene: ENSMUSG00000032997
AA Change: S105N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148980
|
| SMART Domains |
Protein: ENSMUSP00000116977
Gene: ENSMUSG00000051703
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
Pfam:DUF4203
|
119 |
150 |
6.6e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187411
|
| SMART Domains |
Protein: ENSMUSP00000140795
Gene: ENSMUSG00000051703
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
|
Pfam:DUF4203
|
101 |
142 |
6.9e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
PHENOTYPE: Homozygous mice are viable and no detectable mutant phenotype is reported. Mice homozygous for another knock-out allele exhibit slight reduction in femur and tibia length. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
C |
A |
3: 59,843,843 (GRCm39) |
P179Q |
probably damaging |
Het |
| Abcc1 |
C |
T |
16: 14,290,794 (GRCm39) |
T1468I |
probably damaging |
Het |
| Adrb3 |
A |
C |
8: 27,718,099 (GRCm39) |
C117G |
probably benign |
Het |
| Aff4 |
A |
T |
11: 53,302,721 (GRCm39) |
S1065C |
possibly damaging |
Het |
| Agrn |
G |
A |
4: 156,256,825 (GRCm39) |
A1260V |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,488,963 (GRCm39) |
|
probably null |
Het |
| BC005537 |
T |
A |
13: 24,993,916 (GRCm39) |
H159Q |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,274,488 (GRCm39) |
D625G |
probably benign |
Het |
| Cd72 |
A |
G |
4: 43,450,174 (GRCm39) |
Y245H |
probably damaging |
Het |
| Ceacam20 |
G |
T |
7: 19,710,109 (GRCm39) |
V378L |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,585,365 (GRCm39) |
Y399* |
probably null |
Het |
| Cntn5 |
A |
G |
9: 10,145,386 (GRCm39) |
I108T |
possibly damaging |
Het |
| Col14a1 |
A |
G |
15: 55,291,324 (GRCm39) |
T931A |
unknown |
Het |
| D630045J12Rik |
T |
C |
6: 38,105,410 (GRCm39) |
H1890R |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,880,739 (GRCm39) |
I128T |
probably benign |
Het |
| Ece2 |
C |
T |
16: 20,430,534 (GRCm39) |
P54S |
probably damaging |
Het |
| Fhip2a |
T |
C |
19: 57,372,697 (GRCm39) |
|
probably null |
Het |
| Fry |
A |
T |
5: 150,322,998 (GRCm39) |
T1050S |
probably benign |
Het |
| Gfra2 |
A |
G |
14: 71,133,397 (GRCm39) |
K76E |
probably damaging |
Het |
| Gigyf1 |
A |
T |
5: 137,520,457 (GRCm39) |
D423V |
unknown |
Het |
| Gpr180 |
G |
A |
14: 118,391,302 (GRCm39) |
G235R |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,369,003 (GRCm39) |
Q403R |
probably null |
Het |
| Hes5 |
A |
G |
4: 155,045,502 (GRCm39) |
N17S |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,707,735 (GRCm39) |
L59H |
probably damaging |
Het |
| Irs1 |
A |
C |
1: 82,266,290 (GRCm39) |
I642S |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,306,633 (GRCm39) |
V363A |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,028,238 (GRCm39) |
H983R |
possibly damaging |
Het |
| Nynrin |
T |
G |
14: 56,100,587 (GRCm39) |
S126A |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,102,517 (GRCm39) |
M729L |
probably benign |
Het |
| Or51v14 |
G |
A |
7: 103,261,347 (GRCm39) |
T71I |
possibly damaging |
Het |
| Or7e178 |
A |
C |
9: 20,226,015 (GRCm39) |
I67S |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,537,538 (GRCm39) |
G1257D |
probably benign |
Het |
| Pals2 |
A |
T |
6: 50,171,527 (GRCm39) |
E392V |
probably benign |
Het |
| Pcdhgc5 |
A |
G |
18: 37,954,175 (GRCm39) |
E483G |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,680,747 (GRCm39) |
E20G |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,001,662 (GRCm39) |
I1251V |
probably benign |
Het |
| Rfx2 |
A |
T |
17: 57,110,605 (GRCm39) |
M127K |
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,312,407 (GRCm39) |
N668S |
probably benign |
Het |
| Smg6 |
G |
A |
11: 74,929,465 (GRCm39) |
V965M |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,202,314 (GRCm39) |
H2104Q |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,069,396 (GRCm39) |
E2797K |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,087,815 (GRCm39) |
S1755G |
probably benign |
Het |
| Sycp2 |
A |
C |
2: 177,996,770 (GRCm39) |
S1144R |
probably damaging |
Het |
| Tsen54 |
T |
A |
11: 115,711,804 (GRCm39) |
L407* |
probably null |
Het |
| Uba1y |
T |
A |
Y: 828,806 (GRCm39) |
I538K |
possibly damaging |
Het |
| Vil1 |
C |
A |
1: 74,463,136 (GRCm39) |
H440N |
probably benign |
Het |
|
| Other mutations in Chpf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0659:Chpf
|
UTSW |
1 |
75,454,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0789:Chpf
|
UTSW |
1 |
75,452,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1610:Chpf
|
UTSW |
1 |
75,453,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2384:Chpf
|
UTSW |
1 |
75,451,753 (GRCm39) |
missense |
probably benign |
|
|
R3937:Chpf
|
UTSW |
1 |
75,454,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4518:Chpf
|
UTSW |
1 |
75,451,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5336:Chpf
|
UTSW |
1 |
75,452,351 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5859:Chpf
|
UTSW |
1 |
75,452,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6152:Chpf
|
UTSW |
1 |
75,452,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7304:Chpf
|
UTSW |
1 |
75,455,698 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7396:Chpf
|
UTSW |
1 |
75,451,927 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7440:Chpf
|
UTSW |
1 |
75,452,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7840:Chpf
|
UTSW |
1 |
75,453,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Chpf
|
UTSW |
1 |
75,454,931 (GRCm39) |
unclassified |
probably benign |
|
|
R7891:Chpf
|
UTSW |
1 |
75,451,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7952:Chpf
|
UTSW |
1 |
75,455,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7979:Chpf
|
UTSW |
1 |
75,453,904 (GRCm39) |
nonsense |
probably null |
|
|
R8399:Chpf
|
UTSW |
1 |
75,452,864 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8960:Chpf
|
UTSW |
1 |
75,452,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Chpf
|
UTSW |
1 |
75,452,854 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1176:Chpf
|
UTSW |
1 |
75,452,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Chpf
|
UTSW |
1 |
75,452,102 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGTTTAGCTCAGCTCAGATC -3'
(R):5'- AACCCGGAGACTCTGAGCTG -3'
Sequencing Primer
(F):5'- TTAGCTCAGCTCAGATCCGGAC -3'
(R):5'- AGACTCTGAGCTGCCGCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation